Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

The authors used proton MRS to investigate neuropathologic correlates in ni ne patients with proteolipid protein (PLP) gene mutations who did not show cerebral atrophy on cranial MRI. When compared with 16 age-matched control participants, patients with PLP mutations had significant and widespread de creased brain N-acetyl aspartate, a neuronal marker. The authors conclude t hat PLP mutations cause neuroaxonal injury, which in turn contributes to th e neurologic deficit observed in these patients.